An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ NCIT:P378 http://www.ncbi.nlm.nih.gov/pubmed/21502308 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79225 (MONDO:equivalentTo)
  • ICD10:E75.0 (Orphanet:79225)
  • ICD10:E75.1 (Orphanet:79225)
  • MESH:D013106 (Orphanet:79225)
  • ICD10:E75.3 (Orphanet:79225)
  • SCTID:238028008 (MONDO:equivalentTo)
  • DOID:1927 (MONDO:equivalentTo)
  • UMLS:C0037899 (Orphanet:79225)
  • GARD:0007672 (MONDO:equivalentTo)
  • NCIT:C117254 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:79225)
Subsets

gard_rare, ordo_group_of_disorders

definition

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

exactMatch

http://www.orpha.net/ORDO/Orphanet_79225

http://purl.obolibrary.org/obo/NCIT_C117254

http://identifiers.org/snomedct/238028008

http://purl.obolibrary.org/obo/DOID_1927

http://identifiers.org/mesh/D013106

http://linkedlifedata.com/resource/umls/id/C0037899

has exact synonym

sphingolipidoses

id

MONDO:0019255

seeAlso

https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis